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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F14%3A10293044%21RIV15-MSM-11130___
rdf:type
n16:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1371/journal.pone.0095871
dcterms:description
Intellectual disability affects 2-3% of the population; mutations of the X-chromosome are a major cause of moderate to severe cases. The link between the molecular consequences of the mutation and impaired cognitive function remains unclear. Loss of function mutations of oligophrenin-1 (OPHN1) disrupt Rho-GTPase signalling. Here we demonstrate abnormal neurotransmission at CA3 synapses in hippocampal slices from Ophn1(-/y) mice, resulting from a substantial decrease in the readily releasable pool of vesicles. As a result, synaptic transmission fails at high frequencies required for oscillations associated with cognitive functions. Both spontaneous and KA-induced gamma oscillations were reduced in Ophn1(-/y) hippocampal slices. Spontaneous oscillations were rapidly rescued by inhibition of the downstream signalling pathway of oligophrenin-1. These findings suggest that the intellectual disability due to mutations of oligophrenin-1 results from a synaptopathy and consequent network malfunction, providing a plausible mechanism for the learning disabilities. Furthermore, they raise the prospect of drug treatments for affected individuals. Intellectual disability affects 2-3% of the population; mutations of the X-chromosome are a major cause of moderate to severe cases. The link between the molecular consequences of the mutation and impaired cognitive function remains unclear. Loss of function mutations of oligophrenin-1 (OPHN1) disrupt Rho-GTPase signalling. Here we demonstrate abnormal neurotransmission at CA3 synapses in hippocampal slices from Ophn1(-/y) mice, resulting from a substantial decrease in the readily releasable pool of vesicles. As a result, synaptic transmission fails at high frequencies required for oscillations associated with cognitive functions. Both spontaneous and KA-induced gamma oscillations were reduced in Ophn1(-/y) hippocampal slices. Spontaneous oscillations were rapidly rescued by inhibition of the downstream signalling pathway of oligophrenin-1. These findings suggest that the intellectual disability due to mutations of oligophrenin-1 results from a synaptopathy and consequent network malfunction, providing a plausible mechanism for the learning disabilities. Furthermore, they raise the prospect of drug treatments for affected individuals.
dcterms:title
Reduced Gamma Oscillations in a Mouse Model of Intellectual Disability: A Role for Impaired Repetitive Neurotransmission? Reduced Gamma Oscillations in a Mouse Model of Intellectual Disability: A Role for Impaired Repetitive Neurotransmission?
skos:prefLabel
Reduced Gamma Oscillations in a Mouse Model of Intellectual Disability: A Role for Impaired Repetitive Neurotransmission? Reduced Gamma Oscillations in a Mouse Model of Intellectual Disability: A Role for Impaired Repetitive Neurotransmission?
skos:notation
RIV/00216208:11130/14:10293044!RIV15-MSM-11130___
n5:aktivita
n10:I
n5:aktivity
I
n5:cisloPeriodika
5
n5:dodaniDat
n13:2015
n5:domaciTvurceVysledku
n19:5798868
n5:druhVysledku
n7:J
n5:duvernostUdaju
n12:S
n5:entitaPredkladatele
n17:predkladatel
n5:idSjednocenehoVysledku
41698
n5:idVysledku
RIV/00216208:11130/14:10293044
n5:jazykVysledku
n18:eng
n5:klicovaSlova
hippocampus; vesicle pools; working-memory; cognitive impairment; protein oligophrenin-1; gabaergic transmission; synaptic plasticity; in-vitro; network oscillations; linked mental-retardation
n5:klicoveSlovo
n6:linked%20mental-retardation n6:gabaergic%20transmission n6:cognitive%20impairment n6:network%20oscillations n6:synaptic%20plasticity n6:in-vitro n6:working-memory n6:hippocampus n6:protein%20oligophrenin-1 n6:vesicle%20pools
n5:kodStatuVydavatele
US - Spojené státy americké
n5:kontrolniKodProRIV
[95D5C52E8117]
n5:nazevZdroje
PLoS ONE
n5:obor
n11:FH
n5:pocetDomacichTvurcuVysledku
1
n5:pocetTvurcuVysledku
8
n5:rokUplatneniVysledku
n13:2014
n5:svazekPeriodika
9
n5:tvurceVysledku
Buck, S. Caroline Powell, Andrew D. Jiruška, Přemysl Gill, Kalbinder K. Morris, Gareth Saintot, Pierre-Philippe Jefferys, John G. R. Bharathan, Ashtami
n5:wos
000338029800036
s:issn
1932-6203
s:numberOfPages
10
n15:doi
10.1371/journal.pone.0095871
n3:organizacniJednotka
11130